Is RBP3 p.Val432= (c.1296G>A) pathogenic?

RBP3 p.Val432= (c.1296G>A) is classified Benign/Likely benign in RBP3 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-24). Low-frequency (popmax 1.01%, afr); Associated with retinitis pigmentosa 66.

What condition is associated with RBP3 p.Val432= (c.1296G>A)?

RBP3 p.Val432= (c.1296G>A) is associated with retinitis pigmentosa 66, retinitis pigmentosa (ClinVar).

How common is RBP3 p.Val432= (c.1296G>A) in the general population?

RBP3 p.Val432= (c.1296G>A) is low-frequency (popmax 1.01%, afr) (gnomAD).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

RBP3 p.Val432=

c.1296G>A · rs147336433 · VCV779143

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.01%, afr)

Conditions

retinitis pigmentosa 66

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.18	GERP -0.66, phastCons 0.9
Overall
CADD	1.952	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.01% African / African-American · 758/75,038 alleles

Filtering AF 0.951% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.927%

Overall 0.0605% 976/1,613,234 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.01%	99
Admixed American	0.152%	660
Middle Eastern	0.115%	866
Remaining individualsnot grpmax-eligible	0.11%	906
South Asian	0.00439%	22,772
European (non-Finnish)	0.00398%	25,107

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: RBP3
Protein: p.Val432=
Coding: c.1296G>A
MANE Select: NM_005225 · reported on NM_002900
dbSNP: rs147336433
Type: single nucleotide variant
Location: chr10:47349780 (GRCh38)
Structure: AlphaFold pLDDT 63.40 · 8 PDB
Residue 432: the 'transactivation' region

Full RBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa 66 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: retinitis pigmentosa

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

RBP3 p.Val432Leu Uncertain significance ★ same residue
RBP3 p.Val432Met Uncertain significance ★ same residue
RBP3 p.Arg388Ter Pathogenic ★★ same condition
RBP3 p.Gln54Ter Pathogenic ★★ same condition
RBP3 p.Ala263Ser Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala312Thr Uncertain significance ★★ same condition
RBP3 p.Ala325Thr Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala379Thr Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rbp3-p-val432 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown